| Primary Identifier | MGI:98849 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 22095 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables thyroid-stimulating hormone receptor activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including adult locomotory behavior; dopaminergic neuron differentiation; and inner ear development. Located in plasma membrane. Is expressed in endocrine gland and urinary system. Used to study congenital hypothyroidism. Human ortholog(s) of this gene implicated in autoimmune disease (multiple); cardiomyopathy; hyperthyroidism (multiple); and mitral valve prolapse. Orthologous to human TSHR (thyroid stimulating hormone receptor). PHENOTYPE: Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
